Primary Identifier | MGI:2135756 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 80888 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein homodimerization activity. Predicted to be involved in cellular response to unfolded protein and positive regulation of aggrephagy. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of protein folding chaperone complex. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study autosomal dominant distal hereditary motor neuronopathy 2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2L and autosomal dominant distal hereditary motor neuronopathy 2. Orthologous to human HSPB8 (heat shock protein family B (small) member 8). PHENOTYPE: When exposed to pressure overload, mice homozygous for a knock-out allele develop less hypertrophy and display ventricular dilation, impaired contractile function, increased myocyte length and accumulation of interstitial collagen, accelerated transitioninto heart failure, and increased mortality. [provided by MGI curators] |